| Literature DB >> 15572824 |
Sheffali Gulati1, Amandeep Salhotra, M C Sharma, Chitra Sarkar, Veena Kalra.
Abstract
Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. It generally presents during infancy. It is familial with autosomal dominant inheritance [Chromosome 19q13.1; Gene Locus RyR1 (Ryanodine receptor gene)]. We report here two cases of central core disease in a 3-year-old male child and 8 year old female child.Entities:
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Year: 2004 PMID: 15572824 DOI: 10.1007/bf02828119
Source DB: PubMed Journal: Indian J Pediatr ISSN: 0019-5456 Impact factor: 1.967